APP c.346C>T ;(p.R116C)

Variant ID: 21-27462268-G-A

NM_000484.3(APP):c.346C>T;(p.R116C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Natural and cryptic peptides dominate the immunopeptidome of atypical teratoid rhabdoid tumors.

Journal For Immunotherapy Of Cancer
Marcu, Ana A; Schlosser, Andreas A; Keupp, Anne A; Trautwein, Nico N; Johann, Pascal P; Wölfl, Matthias M; Lager, Johanna J; Monoranu, Camelia Maria CM; Walz, Juliane S JS; Henkel, Lisa M LM; Krauß, Jürgen J; Ebinger, Martin M; Schuhmann, Martin M; Thomale, Ulrich Wilhelm UW; Pietsch, Torsten T; Klinker, Erdwine E; Schlegel, Paul G PG; Oyen, Florian F; Reisner, Yair Y; Rammensee, Hans-Georg HG; Eyrich, Matthias M
Publication Date: 2021-10

Variant appearance in text: APP: R116C
PubMed Link: 34599019
Variant Present in the following documents:
  • jitc-2021-003404supp008.pdf
View BVdb publication page



Versatility of ARD1/NAA10-mediated protein lysine acetylation.

Experimental & Molecular Medicine
Vo, Tam Thuy Lu TTL; Jeong, Chul-Ho CH; Lee, Sooyeun S; Kim, Kyu-Won KW; Ha, Eunyoung E; Seo, Ji Hae JH
Publication Date: 2018-07-27

Variant appearance in text: APP: 346C>T; Arg116Trp
PubMed Link: 30054464
Variant Present in the following documents:
  • 12276_2018_Article_100.pdf
View BVdb publication page



Dealing with misfolded proteins: examining the neuroprotective role of molecular chaperones in neurodegeneration.

Molecules (Basel, Switzerland)
Ali, Yousuf O YO; Kitay, Brandon M BM; Zhai, R Grace RG
Publication Date: 2010-10-08

Variant appearance in text: APP: R116C
PubMed Link: 20938400
Variant Present in the following documents:
  • Main text
View BVdb publication page